ClinVar for Gene (Select 10188) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242309	GRCh37/hg19 3q29(chr3:195106447-197846145)x3	ACAP2, APOD +33 more	Copy number gain	not provided	GPathogenic
Select item 3180427	NM_001382273.1(TNK2):c.493C>G (p.Leu165Val)	TNK2 (L197V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180425	NM_001382273.1(TNK2):c.345G>C (p.Gln115His)	TNK2 (Q115H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180424	NM_001382273.1(TNK2):c.2762C>T (p.Thr921Met)	TNK2 (T921M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180423	NM_001382273.1(TNK2):c.2758C>T (p.Pro920Ser)	TNK2 (P929S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180421	NM_001382273.1(TNK2):c.2651T>G (p.Leu884Arg)	TNK2 (L884R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180420	NM_001382273.1(TNK2):c.2617C>T (p.His873Tyr)	TNK2 (H882Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180419	NM_001382273.1(TNK2):c.2601G>T (p.Lys867Asn)	TNK2 (K852N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180418	NM_001382273.1(TNK2):c.85G>A (p.Asp29Asn)	TNK2 (D61N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180417	NM_001382273.1(TNK2):c.2314T>C (p.Ser772Pro)	TNK2 (S796P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180416	NM_001382273.1(TNK2):c.2280C>G (p.Ile760Met)	TNK2 (I760M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180415	NM_001382273.1(TNK2):c.2270G>A (p.Arg757Gln)	TNK2 (R742Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180414	NM_001382273.1(TNK2):c.2231C>T (p.Pro744Leu)	TNK2 (P753L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180413	NM_001382273.1(TNK2):c.2177A>G (p.Gln726Arg)	TNK2 (Q750R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180412	NM_001382273.1(TNK2):c.2156C>T (p.Ala719Val)	TNK2 (A728V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180411	NM_001382273.1(TNK2):c.2125G>T (p.Gly709Trp)	TNK2 (G694W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180410	NM_001382273.1(TNK2):c.1966G>T (p.Asp656Tyr)	TNK2 (D641Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180409	NM_001382273.1(TNK2):c.1924C>T (p.Arg642Cys)	TNK2 (R627C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180408	NM_001382273.1(TNK2):c.1871C>T (p.Thr624Met)	TNK2 (T609M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180407	NM_001382273.1(TNK2):c.1856C>G (p.Pro619Arg)	TNK2 (P628R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180406	NM_001382273.1(TNK2):c.1802C>T (p.Ala601Val)	TNK2 (A610V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180405	NM_001382273.1(TNK2):c.1784C>T (p.Pro595Leu)	TNK2 (P580L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180404	NM_001382273.1(TNK2):c.1652G>A (p.Gly551Asp)	TNK2 (G568D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180402	NM_001382273.1(TNK2):c.1513C>T (p.Arg505Trp)	TNK2 (R529W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180401	NM_001382273.1(TNK2):c.1024A>G (p.Lys342Glu)	TNK2 (K366E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180400	NM_001382273.1(TNK2):c.-18-6800C>A	TNK2 (A4D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3056768	NM_001382273.1(TNK2):c.2078G>A (p.Arg693Gln)	TNK2 (R678Q +5 more)	Single nucleotide variant (missense variant +1 more)	TNK2-related disorder	GBenign
Select item 3053032	NM_001382273.1(TNK2):c.-18-3877G>A	TNK2	Single nucleotide variant (synonymous variant +2 more)	TNK2-related disorder	GLikely benign
Select item 3052732	NM_001382273.1(TNK2):c.1488C>T (p.Leu496=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	TNK2-related disorder	GLikely benign
Select item 3049404	NM_001382273.1(TNK2):c.2778G>A (p.Pro926=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	TNK2-related disorder	GLikely benign
Select item 3046131	NM_001382273.1(TNK2):c.-18-3798G>C	TNK2	Single nucleotide variant (intron variant)	TNK2-related disorder	GLikely benign
Select item 3045279	NM_001382273.1(TNK2):c.-18-3821G>A	TNK2 (R21Q)	Single nucleotide variant (missense variant +2 more)	TNK2-related disorder	GLikely benign
Select item 3044392	NM_001382273.1(TNK2):c.2385G>A (p.Pro795=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	TNK2-related disorder	GLikely benign
Select item 3042447	NM_001382273.1(TNK2):c.1536G>A (p.Gly512=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	TNK2-related disorder	GLikely benign
Select item 3038878	NM_001382273.1(TNK2):c.1680G>T (p.Gly560=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	TNK2-related disorder	GLikely benign
Select item 3037174	NM_001382273.1(TNK2):c.1821G>A (p.Leu607=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	TNK2-related disorder	GLikely benign
Select item 3034839	NM_001382273.1(TNK2):c.305C>T (p.Ser102Leu)	TNK2 (S102L +2 more)	Single nucleotide variant (missense variant +1 more)	TNK2-related disorder	GLikely benign
Select item 3033665	NM_001382273.1(TNK2):c.1761C>T (p.Asp587=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	TNK2-related disorder	GLikely benign
Select item 3025409	NM_001382273.1(TNK2):c.2136G>A (p.Pro712=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3011661	NM_001382273.1(TNK2):c.2914C>T (p.Arg972Trp)	TNK2 (R957W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3006562	NM_001382273.1(TNK2):c.-18-6669C>A	TNK2 (R9S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3002871	NM_001382273.1(TNK2):c.2856G>A (p.Pro952=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2917761	NM_001382273.1(TNK2):c.2127G>A (p.Gly709=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2917342	NM_001382273.1(TNK2):c.2412G>A (p.Ser804=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2915611	NM_001382273.1(TNK2):c.2937+11A>T	TNK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913629	NM_001382273.1(TNK2):c.2937+17G>C	TNK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913113	NM_001382273.1(TNK2):c.1566T>C (p.Pro522=)	TNK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2907316	NM_001382273.1(TNK2):c.1928C>T (p.Pro643Leu)	TNK2 (P643L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2906503	NM_001382273.1(TNK2):c.2026G>A (p.Ala676Thr)	TNK2 (A676T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2906428	NM_001382273.1(TNK2):c.829C>T (p.Leu277=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893710	NM_001382273.1(TNK2):c.2137C>T (p.Pro713Ser)	TNK2 (P713S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2893496	NM_001382273.1(TNK2):c.189G>A (p.Val63=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2882038	NM_001382273.1(TNK2):c.2186G>T (p.Cys729Phe)	TNK2 (C729F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880832	NM_001382273.1(TNK2):c.2146G>A (p.Ala716Thr)	TNK2 (A701T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2877980	NM_001382273.1(TNK2):c.2462G>A (p.Arg821Gln)	TNK2 (R853Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2874692	NM_001382273.1(TNK2):c.1740G>A (p.Gly580=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871677	NM_001382273.1(TNK2):c.1519C>T (p.Pro507Ser)	TNK2 (P507S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868399	NM_001382273.1(TNK2):c.-18-6794C>A	TNK2 (P6H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2867995	NM_001382273.1(TNK2):c.1038G>A (p.Glu346=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2862700	NM_001382273.1(TNK2):c.2688C>T (p.Ser896=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2857946	NM_001382273.1(TNK2):c.594G>A (p.Thr198=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2856883	NM_001382273.1(TNK2):c.596C>T (p.Pro199Leu)	TNK2 (P199L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2849008	NM_001382273.1(TNK2):c.1257-11C>T	TNK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817201	NM_001382273.1(TNK2):c.3066C>T (p.Pro1022=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2814607	NM_001382273.1(TNK2):c.1667_1668delinsAT (p.Gly556Asp)	TNK2 (G580D +5 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2808000	NM_001382273.1(TNK2):c.1622A>T (p.Asp541Val)	TNK2 (D573V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2805580	NM_001382273.1(TNK2):c.457G>T (p.Val153Leu)	TNK2 (V177L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2804638	NM_001382273.1(TNK2):c.-18-16A>G	TNK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803693	NM_001382273.1(TNK2):c.-18-7C>T	TNK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2797824	NM_001382273.1(TNK2):c.647G>A (p.Arg216Gln)	TNK2 (R248Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2791377	NM_001382273.1(TNK2):c.1543+8C>T	TNK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791240	NM_001382273.1(TNK2):c.2636A>G (p.Glu879Gly)	TNK2 (E896G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2780856	NM_001382273.1(TNK2):c.1034A>G (p.Lys345Arg)	TNK2 (K369R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2780855	NM_001382273.1(TNK2):c.2639G>A (p.Arg880Gln)	TNK2 (R865Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777954	NM_001382273.1(TNK2):c.888-7C>T	TNK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775943	NM_001382273.1(TNK2):c.948C>T (p.Phe316=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2766075	NM_001382273.1(TNK2):c.-18-6765G>C	TNK2 (G16R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2759729	NM_001382273.1(TNK2):c.440C>T (p.Ala147Val)	TNK2 (A179V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2757504	NM_001382273.1(TNK2):c.2461C>T (p.Arg821Trp)	TNK2 (R806W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2734101	NM_001382273.1(TNK2):c.1692G>A (p.Ala564=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2730049	NM_001382273.1(TNK2):c.2590C>G (p.Arg864Gly)	TNK2 (R888G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2724954	NM_001382273.1(TNK2):c.2064G>T (p.Val688=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2721957	NM_001382273.1(TNK2):c.579C>T (p.Tyr193=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2721516	NM_001382273.1(TNK2):c.261T>A (p.Ala87=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2721012	NM_001382273.1(TNK2):c.2328G>A (p.Pro776=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2718513	NM_001382273.1(TNK2):c.2590C>T (p.Arg864Trp)	TNK2 (R864W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2718029	NM_001382273.1(TNK2):c.2070G>A (p.Glu690=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712475	NM_001382273.1(TNK2):c.2853C>T (p.Pro951=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2703835	NM_001382273.1(TNK2):c.1959G>C (p.Val653=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2703086	NM_001382273.1(TNK2):c.1479C>T (p.Pro493=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2695670	NM_001382273.1(TNK2):c.416T>C (p.Val139Ala)	TNK2 (V163A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685950	GRCh37/hg19 3q29(chr3:195244842-195769200)x3	APOD, MIR570 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2654506	NM_001382273.1(TNK2):c.-18-6805C>T	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654505	NM_001382273.1(TNK2):c.852C>T (p.Tyr284=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654504	NM_001382273.1(TNK2):c.1521C>G (p.Pro507=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654503	NM_001382273.1(TNK2):c.1570C>A (p.Pro524Thr)	TNK2 (P524T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2654502	NM_001382273.1(TNK2):c.2212G>A (p.Gly738Ser)	TNK2 (G723S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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